UniProtKB - O14493 (CLD4_HUMAN)
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Protein
Claudin-4
Gene
CLDN4
Organism
Homo sapiens (Human)
Status
Functioni
Channel-forming tight junction protein that mediates paracellular chloride transport in the kidney. Plays a critical role in the paracellular reabsorption of filtered chloride in the kidney collecting ducts. Claudins play a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.By similarity
GO - Molecular functioni
- chloride channel activity Source: UniProtKB
- identical protein binding Source: UniProtKB
- structural molecule activity Source: InterPro
- transmembrane signaling receptor activity Source: ProtInc
GO - Biological processi
- calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules Source: UniProtKB
- circadian rhythm Source: Ensembl
- establishment of skin barrier Source: UniProtKB
- female pregnancy Source: Ensembl
- renal absorption Source: UniProtKB
- response to progesterone Source: Ensembl
Keywordsi
Molecular function | Chloride channel, Ion channel |
Biological process | Ion transport, Transport |
Ligand | Chloride |
Enzyme and pathway databases
Reactomei | R-HSA-420029. Tight junction interactions. |
Protein family/group databases
TCDBi | 1.H.1.1.6. the claudin tight junction (claudin1) family. |
Names & Taxonomyi
Protein namesi | Recommended name: Claudin-4Alternative name(s): Clostridium perfringens enterotoxin receptor1 Publication Short name: CPE-R1 Publication Short name: CPE-receptor1 Publication Williams-Beuren syndrome chromosomal region 8 protein |
Gene namesi | Name:CLDN4 Synonyms:CPER1 Publication, CPETR11 Publication, WBSCR8 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000189143.9. |
HGNCi | HGNC:2046. CLDN4. |
MIMi | 602909. gene. |
neXtProti | NX_O14493. |
Subcellular locationi
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 7 | CytoplasmicSequence analysis | 7 | |
Transmembranei | 8 – 28 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 29 – 81 | ExtracellularSequence analysisAdd BLAST | 53 | |
Transmembranei | 82 – 102 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 103 – 117 | CytoplasmicSequence analysisAdd BLAST | 15 | |
Transmembranei | 118 – 138 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 139 – 160 | ExtracellularSequence analysisAdd BLAST | 22 | |
Transmembranei | 161 – 181 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 182 – 209 | CytoplasmicSequence analysisAdd BLAST | 28 |
Keywords - Cellular componenti
Cell junction, Cell membrane, Membrane, Tight junctionPathology & Biotechi
Involvement in diseasei
CLDN4 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region.
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 208 | Y → F: Loss of phosphorylation by EPHA2. 1 Publication | 1 |
Keywords - Diseasei
Williams-Beuren syndromeOrganism-specific databases
DisGeNETi | 1364. |
OpenTargetsi | ENSG00000189143. |
PharmGKBi | PA26572. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000144743 | 1 – 209 | Claudin-4Add BLAST | 209 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 198 | PhosphoserineBy similarity | 1 | |
Modified residuei | 208 | Phosphotyrosine; by EPHA21 Publication | 1 |
Post-translational modificationi
Phosphorylated. Phosphorylation by EPHA2 is stimulated by EFNA1 and alters interaction with TJP1.1 Publication
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | O14493. |
PaxDbi | O14493. |
PeptideAtlasi | O14493. |
PRIDEi | O14493. |
PTM databases
iPTMneti | O14493. |
PhosphoSitePlusi | O14493. |
Expressioni
Gene expression databases
Bgeei | ENSG00000189143. |
CleanExi | HS_CLDN4. |
ExpressionAtlasi | O14493. baseline and differential. |
Genevisiblei | O14493. HS. |
Organism-specific databases
HPAi | CAB002610. |
Interactioni
Subunit structurei
Directly interacts with TJP1/ZO-1 (PubMed:16236711). Interacts with TJP2/ZO-2 and TJP3/ZO-3 (By similarity). Interacts with EPHA2; phosphorylates CLDN4 and may regulate tight junctions (PubMed:16236711). Interacts with CLDN1 (PubMed:20375010). Interacts with CLDN4 (By similarity).By similarity2 Publications
GO - Molecular functioni
- identical protein binding Source: UniProtKB
Protein-protein interaction databases
BioGridi | 107756. 2 interactors. |
IntActi | O14493. 3 interactors. |
STRINGi | 9606.ENSP00000342445. |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more detailsFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Beta strandi | 1 – 3 | Combined sources | 3 | |
Helixi | 7 – 26 | Combined sources | 20 | |
Beta strandi | 30 – 35 | Combined sources | 6 | |
Beta strandi | 44 – 48 | Combined sources | 5 | |
Beta strandi | 50 – 61 | Combined sources | 12 | |
Beta strandi | 63 – 66 | Combined sources | 4 | |
Helixi | 75 – 96 | Combined sources | 22 | |
Turni | 102 – 106 | Combined sources | 5 | |
Helixi | 117 – 148 | Combined sources | 32 | |
Beta strandi | 154 – 160 | Combined sources | 7 | |
Helixi | 163 – 182 | Combined sources | 20 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5B2G | X-ray | 3.50 | A/C/E/G | 1-183 | [»] | |
ProteinModelPortali | O14493. | |||||
SMRi | O14493. | |||||
ModBasei | Search... | |||||
MobiDBi | Search... |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 103 | Interaction with EPHA21 PublicationAdd BLAST | 103 | |
Regioni | 208 – 209 | Interactions with TJP1, TJP2 and TJP3By similarity | 2 |
Sequence similaritiesi
Belongs to the claudin family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | ENOG410IIJR. Eukaryota. ENOG410YA61. LUCA. |
GeneTreei | ENSGT00760000118928. |
HOGENOMi | HOG000220937. |
HOVERGENi | HBG000643. |
InParanoidi | O14493. |
KOi | K06087. |
OMAi | TAHNVIR. |
OrthoDBi | EOG091G0MMR. |
PhylomeDBi | O14493. |
TreeFami | TF331936. |
Family and domain databases
InterProi | View protein in InterPro IPR006187. Claudin. IPR003550. Claudin4. IPR017974. Claudin_CS. IPR004031. PMP22/EMP/MP20/Claudin. |
PANTHERi | PTHR12002. PTHR12002. 1 hit. |
Pfami | View protein in Pfam PF00822. PMP22_Claudin. 1 hit. |
PRINTSi | PR01379. CLAUDIN4. |
PROSITEi | View protein in PROSITE PS01346. CLAUDIN. 1 hit. |
i Sequence
Sequence statusi: Complete.
O14493-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MASMGLQVMG IALAVLGWLA VMLCCALPMW RVTAFIGSNI VTSQTIWEGL
60 70 80 90 100
WMNCVVQSTG QMQCKVYDSL LALPQDLQAA RALVIISIIV AALGVLLSVV
110 120 130 140 150
GGKCTNCLED ESAKAKTMIV AGVVFLLAGL MVIVPVSWTA HNIIQDFYNP
160 170 180 190 200
LVASGQKREM GASLYVGWAA SGLLLLGGGL LCCNCPPRTD KPYSAKYSAA
RSAAASNYV
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB000712 mRNA. Translation: BAA22984.1. BT006989 mRNA. Translation: AAP35635.1. BC000671 mRNA. Translation: AAH00671.1. |
CCDSi | CCDS5560.1. |
RefSeqi | NP_001296.1. NM_001305.4. |
UniGenei | Hs.647036. Hs.729359. |
Genome annotation databases
Ensembli | ENST00000340958; ENSP00000342445; ENSG00000189143. ENST00000431918; ENSP00000388639; ENSG00000189143. ENST00000435050; ENSP00000409544; ENSG00000189143. |
GeneIDi | 1364. |
KEGGi | hsa:1364. |
Similar proteinsi
Entry informationi
Entry namei | CLD4_HUMAN | |
Accessioni | O14493Primary (citable) accession number: O14493 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | January 1, 1998 | |
Last modified: | February 28, 2018 | |
This is version 151 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |